Gene Symbol | OPA1 |
Entrez Gene ID | 4976 |
Full Name | OPA1, mitochondrial dynamin like GTPase |
Synonyms | BERHS,MGM1,MTDPS14,NPG,NTG,largeG |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]. |
Disorder MIM: | |
Disorder Html: | Optic atrophy 1, 165500 (3); {Glaucoma, normal tension, susceptibility to}, 606657 (3); Optic atrophy plus syndrome, 125250 (3); Behr syndrome, 210000 (3); ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3) |